Wednesday, November 5, 2014

Oh boy, October was just crazy busy. We heard from T-Gen yesterday that the doctor is going to sit down with the scientific staff and see if they can get this sequencing issue resolved for Katie. They are trying to get a confirmation of a gene mutation and this is a really important step for us. But they have tried probably 7 times and are having a hard time with it. We are going on almost 2 years of waiting and, wow, I never knew I was this patient of a person. T-Gen is awesome and I feel honored they are having a meeting about Katie! Well, her gene anyway.

We met a doctor at a wedding last January who sees kids with autism and similar issues. He was a general doctor for probably 30 years or so and now is a homeopathic doctor. I was able to talk Paul into going this route - can't hurt! So we saw this Doctor and I really liked him, he does believe in regular medicine but also says there are other things to look at that might be able to help Katie. So we are currently doing some other tests and I have put her on a gluten and casein free diet. O M G this is not an easy task! And it is not cheap, everything gluten and casein free is so expensive! I have been cooking all week so I am exhausted. Hey, we all can't be naturally good cooks! So anyway, I am not going to go into all the details of how hard this is for me (poor me!) but Paul keeps asking me, "Are these gluten free?" before he eats anything. And so far everything has turned out to taste not too bad. Anyone want to come for pancakes?

With Katie we didn't do any testing to see if she needs to be on this diet, but the doc thought it would help her with her constipation issues and we will see if it helps her to focus better. Gluten can cause "fuzzy brain" and I will see if I notice any changes in her. She was really cranky and tired the first week and my friend told me to make sure she had enough fat in her diet, so now that I know that this week is going better. I also found donuts that fit so at least at school on Donut Friday in her classroom she won't miss out. I was worried about this, if you know Katie you know she likes her food.

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Katie's Story!

Read our story on the ViaCord website - click on the picture above

welcome to my blog!

Our daughter Katie, underwent a cord blood transfusion at Duke Medical Center in early January 2010. It was her own (umbilical) cord blood which we had saved at birth through a company called ViaCord. Not really thinking we would ever have a need for it, we were absolutely THRILLED at the thought that her own cord blood might be able to change her life, and help her to progress faster.

We are very hopeful that this procedure will help Katie to progress faster in overcoming her many physical delays. Mentally she seems to be fine, able to understand, and tries to communicate, but her physical delays hold her back.

What is expected is that the stem cells in the cord blood will repair or replace any damaged cells, or form new connections anywhere in her body that needs it. We were told not to expect much for at least 6 months - that most parents report a jumpstart in therapies at about that time. However, there are those families I have seen on youtube or the news who have incredible results - some even right away, and I can only be hopeful that we will have a similar experience. After all, I am her mom!

I believe that with the help of Katie's therapists, caregivers, and family, that I will be able to objectively sort out any milestones or changes that may be due to the stem cell transfusion, and that is what this blog is all about!

04/20/16 Katie has been diagnosed with a very rare gene mutation on the gene GRIK2. TGen is who found this gene mutation and put us in touch with a scientist at Northwestern University who is doing further research on Katie, specifically. So awesome!

about Katie

Katie was diagnosed with hypotonia at age 1, which is basically weak muscles, not really a true "diagnosis". We have no idea why she has this, but it delays her in many areas such as crawling, sitting, walking, talking, and fine motor skills. Katie is now 10 years old and she started walking about 4 years ago but still unsteady. Her coordination and balance are something we are constantly working on.
She did wear glasses from ages 2-4 and then her vision improved and she doesn't need them anymore, which is so great! Getting glasses on her was not easy - had to come from behind and put them over her head that way. It's nice not to have to worry about getting the glasses on her any more!
Katie can totally understand what you say, nods her head for "yes", has a few signs (for "more" and "me") but still is not able to talk much at all. Maybe a few words.
Katie is a work in progress!